Canonical Allele Identifier: CA7172600
Gene: MGAT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 461189
ClinVar RCV Id: RCV000839536 RCV001087051
dbSNP Id: rs77872234
ExAC: 14:50088754 T / G
gnomAD v2: 14-50088754-T-G
gnomAD v3: 14-49622036-T-G
gnomAD v4: 14-49622036-T-G
MyVariant Identifiers: chr14:g.50088754T>G (hg19) chr14:g.49622036T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.49622036T>G , CM000676.2:g.49622036T>G GRCh38
NC_000014.8:g.50088754T>G , CM000676.1:g.50088754T>G GRCh37
NC_000014.7:g.49158504T>G NCBI36
NG_008920.1:g.6266T>G
NG_033054.1:g.3596A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305386.4:c.768T>G MANE Select ENSP00000307423.2:p.Leu256=
ENST00000305386.3:c.768T>G ENSP00000307423.2:p.Leu256=
NM_002408.3:c.768T>G NP_002399.1:p.Leu256=
NM_002408.4:c.768T>G MANE Select NP_002399.1:p.Leu256=
Search 100 bp 5'
Search 100 bp 3'